LPAR6, lysophosphatidic acid receptor 6, 10161

N. diseases: 47; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434309
rs121434309
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		0.800 GeneticVariation UNIPROT Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 18297072 2008
dbSNP: rs879255262
rs879255262
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		0.800 GeneticVariation UNIPROT Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 18297072 2008
dbSNP: rs121434309
rs121434309
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		T 0.800 CausalMutation CLINVAR
dbSNP: rs879255262
rs879255262
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121434308
rs121434308
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		T 0.700 GeneticVariation CLINVAR In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis. 25119526 2014
dbSNP: rs121434307
rs121434307
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		0.700 GeneticVariation UNIPROT Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 18297072 2008
dbSNP: rs121434308
rs121434308
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		T 0.700 GeneticVariation CLINVAR Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). 18461368 2008
dbSNP: rs115596308
rs115596308
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434306
rs121434306
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434307
rs121434307
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C1848435
Disease:
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434308
rs121434308
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1566212378
rs1566212378
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		C 0.700 CausalMutation CLINVAR
dbSNP: rs2854344
rs2854344
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.020 GeneticVariation BEFREE Carrying the minor allele of these SNPs appears to confer a protective effect on breast cancer risk (odd ratio (OR) = 0.86 (0.76-0.96) for rs2854344 and OR = 0.80 (0.66-0.96) for rs198580). 16685266 2006
dbSNP: rs2854344
rs2854344
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0678222
Disease:
Breast Carcinoma 		0.020 GeneticVariation BEFREE Carrying the minor allele of these SNPs appears to confer a protective effect on breast cancer risk (odd ratio (OR) = 0.86 (0.76-0.96) for rs2854344 and OR = 0.80 (0.66-0.96) for rs198580). 16685266 2006
dbSNP: rs2854344
rs2854344
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.020 GeneticVariation BEFREE However, intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk. 17047088 2006
dbSNP: rs2854344
rs2854344
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0678222
Disease:
Breast Carcinoma 		0.020 GeneticVariation BEFREE However, intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk. 17047088 2006
dbSNP: rs9568036
rs9568036
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE We found a statistically significant difference between the polymorphism RB1-GG/rs9568036</span> and tumor chemoresistance (p<0.05). 28210099 2017
dbSNP: rs9568036
rs9568036
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0035335
Disease:
Retinoblastoma 		0.010 GeneticVariation BEFREE The rs9568036 polymorphism in the <i>RB1</i> gene and the allelic variants can be associated with type of response to medical therapy and associated with male sex, while the allelic variant rs1042522 polymorphism in the <i>TP53</i> gene is associated with the unilateral presentation of the disease in a group of Mexican children with RB. 28210099 2017
dbSNP: rs2227311
rs2227311
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE However, intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk. 17047088 2006
dbSNP: rs2227311
rs2227311
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE However, intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk. 17047088 2006